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rs794728040

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728040(A;A)
Make rs794728040(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position188992914
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs794728040
ebirs794728040
HLIrs794728040
Exacrs794728040
Varsomers794728040
Maprs794728040
PheGenIrs794728040
hapmaprs794728040
1000 genomesrs794728040
hgdprs794728040
ensemblrs794728040
gopubmedrs794728040
geneviewrs794728040
scholarrs794728040
googlers794728040
pharmgkbrs794728040
gwascentralrs794728040
openSNPrs794728040
23andMers794728040
23andMe allrs794728040
SNP Nexus

SNPshotrs794728040
SNPdbers794728040
MSV3drs794728040
GWAS Ctlgrs794728040
Max Magnitude0
ClinVar
Risk rs794728040(A;A)
Alt rs794728040(A;A)
Reference rs794728040(G;G)
Significance Probable-Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection
Variation info
Gene COL3A1
CLNDBN Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000002.11:g.189857640G>A
CLNSRC
CLNACC RCV000181076.1,